Literature DB >> 19805737

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type.

E Morava, R A Wevers, M A Willemsen, D Lefeber.   

Abstract

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Year:  2009        PMID： 19805737     DOI： 10.1212/WNL.0b013e3181b26daf

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  6 in total

1.  Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.

Authors:  Björn Fischer; Aikaterini Dimopoulou; Johannes Egerer; Thatjana Gardeitchik; Alexa Kidd; Dominik Jost; Hülya Kayserili; Yasemin Alanay; Iliana Tantcheva-Poor; Elisabeth Mangold; Cornelia Daumer-Haas; Shubha Phadke; Reto I Peirano; Julia Heusel; Charu Desphande; Neerja Gupta; Arti Nanda; Emma Felix; Elisabeth Berry-Kravis; Madhulika Kabra; Ron A Wevers; Lionel van Maldergem; Stefan Mundlos; Eva Morava; Uwe Kornak
Journal:  Hum Genet       Date:  2012-07-08       Impact factor: 4.132

2.  Socio-emotional Problems in Children with CDG.

Authors:  K F E van de Loo; L van Dongen; M Mohamed; T Gardeitchik; T W Kouwenberg; S B Wortmann; R J T Rodenburg; D J Lefeber; E Morava; C M Verhaak
Journal:  JIMD Rep       Date:  2013-06-04

Review 3.  Metabolic cutis laxa syndromes.

Authors:  Miski Mohamed; Dorus Kouwenberg; Thatjana Gardeitchik; Uwe Kornak; Ron A Wevers; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2011-03-23       Impact factor: 4.982

4.  Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. "When the wine goes in, strange things come out" - S.T. Coleridge, The Piccolomini.

Authors:  M Binkhorst; S B Wortmann; S Funke; T Kozicz; R A Wevers; E Morava
Journal:  J Inherit Metab Dis       Date:  2011-12-02       Impact factor: 4.982

Review 5.  Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.

Authors:  Ariana Kariminejad; Fariba Afroozan; Bita Bozorgmehr; Alireza Ghanadan; Susan Akbaroghli; Hamid Reza Khorram Khorshid; Faezeh Mojahedi; Aria Setoodeh; Abigail Loh; Yu Xuan Tan; Nathalie Escande-Beillard; Fransiska Malfait; Bruno Reversade; Thatjana Gardeitchik; Eva Morava
Journal:  Int J Mol Sci       Date:  2017-03-15       Impact factor: 5.923

6.  Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.

Authors:  Guido Vogt; Naji El Choubassi; Ágnes Herczegfalvi; Heike Kölbel; Anja Lekaj; Ulrike Schara; Manuel Holtgrewe; Sabine Krause; Rita Horvath; Markus Schuelke; Christoph Hübner; Stefan Mundlos; Andreas Roos; Hanns Lochmüller; Veronika Karcagi; Uwe Kornak; Björn Fischer-Zirnsak
Journal:  J Inherit Metab Dis       Date:  2021-02-04       Impact factor: 4.750
  6 in total

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